The Crossroads Between Intersectionality and Rare Disease Care
Introduction
Access to quality healthcare, a universal right decreed by the World Health Organization (WHO), is diminished in marginalized communities. Social determinants of health, including race, gender, and age, can exacerbate health inequities.1,2 When these determinants converge to disadvantage an individual, this is called "intersectionality", which can have serious impacts on patients from all types of marginalized communities.3,4,5 Furthermore, rare disease (RD) patients tend to find the impacts of intersectionality compound their disadvantages relative to non-RD patients, given their exposure to certain health disparities, including the lack of RD expertise in their local area.1,3,5 Reports from interviews conducted with RD patients in North America show that patients within certain minorities experience more negative healthcare experiences.6,7 In Canada specifically, these issues tend to be caused by systemic factors, which affect the structure of the healthcare system.8 For instance, traditional patient-physician relationships that assume the physician is the sole healthcare advisor can make RD patients unable to direct their care based on their unique needs and circumstances.1,5 Healthcare policy revisions can directly address systemic factors while favourably representing the rights of RD patients in healthcare institutions.1 As such, understanding how intersectionality in the healthcare system affects the RD community will be vital to determining where policy-based solutions will be most applicable.
Factors of Intersectionality in Rare Disease Care
Patient identity is especially relevant in healthcare settings. For instance, gender and sexual identity are commonly targeted by institutionalized discrimination, as is the case for many gender and sexuality-based health disparities experienced by RD patients.6,9 In fact, many rare diseases, with the exception of conditions like Kaposi sarcoma which has disproportionately affected homosexual men, are not specific to sexual identity.10 However, RD patients in the LGBTQIA2S+ community, such as gender-diverse and transitioning peoples, may encounter bias against their identity during treatment.6 These encounters may influence patients to hide their sexual identity to avoid potential stigma from healthcare professionals.6,11 Ultimately, patients may be distrustful of healthcare professionals, uncomfortable with seeking future care, and have difficulty sharing important information related to their condition, making it hard to properly address their concerns.6
Furthermore, gender biases in RD care disadvantage cisgender women in addition to transgender, gender-diverse, and intersex individuals.12-14 Often, people with these gender identities wait longer than cisgender males for diagnoses, which is due in part to healthcare professionals downplaying the symptoms of patients from these groups.3,12,13 Accordingly, a report on the experience of female RD patients in the French healthcare system revealed that women tend to begin symptom management later than cisgender male patients.12,13 As well, those that identify as a gender other than cisgender male are more likely to be denied treatment for their condition.5,12-14 Considering there is a lack of data collected in healthcare settings on sexuality and gender, it becomes harder for healthcare institutions to identify inequities in health outcomes, experiences, and quality of care between patients of different genders.6,9 Thus, gender discrimination can result in rapid progression of a RD patient’s condition, leading to negative impacts on their quality of life and ability to actively participate in their community. As such, it is crucial to address the healthcare gap felt by gender-diverse and gender-nonconforming RD patients.
Experiences with RD can be further impacted by patient age. Compared to adult RD patients who have more stable RD care, young patients experience turbulence early in life due to their rare condition.7,11 This is important given that the majority of RDs manifest in childhood.7 Youth with RD may often experience stigma from their peers, potentially leading to social isolation and elevated stress.7 When seeking care for their condition, they may also face barriers in the healthcare system that prevent them from advocating for their needs, often due to an inability to express those needs to healthcare providers.3,7 Here, it is important that family members or caregivers step in to represent the voice of the patient, though this must be done with care to avoid stripping patients of their autonomy.7 While treatment may eventually stabilize under pediatric care, adolescent RD patients may experience disruptions in their treatment as they transition to adult care.15 For example, adolescent patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)—a genetic condition where individuals with two X chromosomes lack a uterus and the upper two-thirds of their vagina—have expressed challenges in working with medical teams to understand their condition and obtain care.15 MRKHS patients have described interactions with physicians as confusing and isolating due to the lack of open patient-physician dialogue on sexual and reproductive health. This makes it tough for adolescent MRKHS patients to make treatment decisions and have confidence about the direction of their care into young adulthood.15 Poor coordination of resources and patient needs during these sensitive ages highlights the difficulty youth encounter in RD care.
Interactions with the healthcare system are also affected by the intersection between a RD patient’s socioeconomic status (SES) and their race. Studies in the U.S. and Canada show that those in lower tax brackets tend to experience higher rates of racial discrimination by healthcare providers.3,8,16 Implicit bias from healthcare professionals regarding a patient’s SES and race is one factor that explains these reports.17,18 Crucially, these biases influence a healthcare provider’s perception of a patient and the care decisions they make.17 For example, regarding chronic pain care in the U.S., African-American and low SES patients are less likely to have their pain addressed by healthcare providers than Caucasian and high SES patients.18 Ultimately, discrimination against race and SES results in poor health outcomes and low satisfaction with the care received due to patient mistrust of healthcare providers and the perception of physician hostility.3,8,16 RD patients are affected just as readily. For instance, in Cleveland, Ohio, sarcoidosis patients residing in low income zip codes (corresponding to the impoverished inner city) feel more discrimination from healthcare providers with respect to their income and race compared to those in high income zip codes.19 This and many other similar studies reveal how implicit bias affects the provision and quality of RD care, which highlights the importance of minimizing bias to avoid privileging care based on patient attributes.
Furthermore, RD patients in rural communities often have trouble accessing care relative to those in urban areas.20,21 Resource scarcities related to rare disease treatment, combined with long travel times to urban clinics and opportunity costs associated with that travel (e.g., time off work or school) limits access to quality RD care for rural populations.20 Thus, effectively addressing the health needs of rural RD patients will require an emphasis on the social and financial factors relevant to rural communities.
Addressing Intersectionality in Rare Disease Care
In recognizing the need for more equitable healthcare, several countries are trying to implement policies that better recognize and address the needs of RD patients. In Canada, the Canadian Organization for Rare Disorders (CORD) works closely with the federal government and Health Canada to reduce healthcare disparities for RD patients by involving patients and caregivers in policy discussions and lobbying for increased accommodation of RDs in Canada’s healthcare system.22 The National Organization for Rare Disorders, the U.S. equivalent of CORD, is doing similar work by pushing government officials to expand healthcare coverage for RD patients under the Affordable Care Act.1 Other countries, such as Germany, address rare disease care through a patient-centred approach. The German National Action Plan for Rare Diseases outlines the creation of three types of rare disease centres that interface with RD patients in different ways: A, B, and C-centres connect RD patients to primary care physicians, specialists, and outpatient care respectively.23,24 This system is interdisciplinary, allowing clinicians from the different types of centres to share treatment information, coordinate care, and better support RD patients, fostering a relationship between patients, physicians, and healthcare institutions that specifically targets each patient's needs.23,24 This supports RD patients by enhancing patient-physician rapport and increasing the quality and delivery of care, demonstrating a viable strategy for improving RD care in other countries.23
In light of the issues surrounding intersectionality and alongside ongoing efforts, future policy in Canada must ensure RD patients’ right to access quality care. One of the most cited solutions includes the development of a national task force to assess the healthcare resources needed by different regions across the country, such as telemedicine services for those in rural communities.20,25 A 2021 pilot study in British Columbia examining the use of telemedicine for rare genetic disorders demonstrated that despite some operational difficulties, both patient travel time and service costs were reduced, thereby demonstrating the efficacy of telemedicine options in certain cases.26 Furthermore, healthcare institutions must mitigate unconscious biases against RD patients and strengthen patient-physician relationships. This can be achieved by increasing representation of marginalized groups and RD patients in all levels of healthcare and training healthcare professionals on the crossroads of intersectionality and rare disease.6
Current Advocacy and Next Steps for Canada
While policies ensure the implementation of intersectionality-focused solutions in healthcare, advocacy is the key first step to raising awareness about health disparities. Dr. Kathleen Bogart of Oregon State University, one of many independent researchers, is filling the gap in research on the intersection between sexual identity and the quality of rare disease care to better represent the struggles of LGBTQIA2S+ RD patients.6,11 Furthermore, in 2021, CORD pushed for Canada to adopt a United Nations resolution for member states to make tangible efforts to uphold the rights of RD patients per the WHO’s constitution, improving their quality of life and addressing the effects of intersectionality they face.22,27 These advocacy efforts have pushed the federal government to further fund rare disease care through initiatives like the National Strategy for Drugs for Rare Diseases, a $1.5 billion investment announced in March 2023 to make drugs more accessible and affordable for all RD patients across Canada.28 Finally, the Public Health Agency of Canada launched the Pan-Canadian Health Inequalities Reporting Initiative in 2022, which can better inform providers on healthcare disparities via expanded demographic data collection and give insights on how to combat intersectionality in Canadian healthcare.29 These represent a small yet significant fraction of the voices calling for increased protection of RD patient rights, with a myriad of other more specific rare disease organizations contributing as well.
Eradicating the negative effects of intersectionality has wide reaching benefits. Many proposed solutions for improving RD care for marginalized groups can better the healthcare experience for all marginalized peoples interacting with the healthcare system. After all, improving the quality of care for RD patients improves care for all. Healthcare’s universal access should not be limited by discrimination and biases in the distribution of resources for any group. It is important to push strongly for equity in healthcare provision, to educate on the causes and effects of disparities, and to project the voices of patients and caregivers in the rare disease community and beyond.
Omar AbdelraheemReferences
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Cite This Article:
Abdelraheem, O., Chen, S., Dmitriev, A., Chharawala, V. The Crossroads Between Intersectionality and Rare Disease. Illustrated by J. Duchscher. Rare Disease Review. October 2024. DOI: 10.13140/RG.2.2.13602.54726
